Publications:

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: TRIM10: 929-312G>A; rs2517646

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs2517646

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TRIM10: 929-312G>A; rs2517646

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era.

Genome Biology

Do, Catherine C; Shearer, Alyssa A; Suzuki, Masako M; Terry, Mary Beth MB; Gelernter, Joel J; Greally, John M JM; Tycko, Benjamin B

Publication Date: 2017-06-19

Variant appearance in text: rs2517646

PubMed Link: 28629478

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1250.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs2517646

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Insight into the peopling of Mainland Southeast Asia from Thai population genetic structure.

Plos One

Wangkumhang, Pongsakorn P; Shaw, Philip James PJ; Chaichoompu, Kridsadakorn K; Ngamphiw, Chumpol C; Assawamakin, Anunchai A; Nuinoon, Manit M; Sripichai, Orapan O; Svasti, Saovaros S; Fucharoen, Suthat S; Praphanphoj, Verayuth V; Tongsima, Sissades S

Publication Date: 2013

Variant appearance in text: rs2517646

PubMed Link: 24223962

Variant Present in the following documents:

• Main text
• pone.0079522.pdf

View BVdb publication page

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Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.

Plos One

Matesanz, Fuencisla F; González-Pérez, Antonio A; Lucas, Miguel M; Sanna, Serena S; Gayán, Javier J; Urcelay, Elena E; Zara, Ilenia I; Pitzalis, Maristella M; Cavanillas, María L ML; Arroyo, Rafael R; Zoledziewska, Magdalena M; Marrosu, Marisa M; Fernández, Oscar O; Leyva, Laura L; Alcina, Antonio A; Fedetz, Maria M; Moreno-Rey, Concha C; Velasco, Juan J; Real, Luis M LM; Ruiz-Peña, Juan Luis JL; Cucca, Francesco F; Ruiz, Agustín A; Izquierdo, Guillermo G

Publication Date: 2012

Variant appearance in text: rs2517646

PubMed Link: 22570697

Variant Present in the following documents:

• Main text

View BVdb publication page

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Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving.

Bmc Evolutionary Biology

Cagliani, Rachele R; Riva, Stefania S; Pozzoli, Uberto U; Fumagalli, Matteo M; Comi, Giacomo P GP; Bresolin, Nereo N; Clerici, Mario M; Sironi, Manuela M

Publication Date: 2011-06-17

Variant appearance in text: rs2517646

PubMed Link: 21682861

Variant Present in the following documents:

• Main text
• 1471-2148-11-171.pdf

View BVdb publication page

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Autoimmune disease classification by inverse association with SNP alleles.

Plos Genetics

Sirota, Marina M; Schaub, Marc A MA; Batzoglou, Serafim S; Robinson, William H WH; Butte, Atul J AJ

Publication Date: 2009-12

Variant appearance in text: rs2517646

PubMed Link: 20041220

Variant Present in the following documents:

• Main text
• pgen.1000792.pdf

View BVdb publication page

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Genomic dissection of population substructure of Han Chinese and its implication in association studies.

American Journal Of Human Genetics

Xu, Shuhua S; Yin, Xianyong X; Li, Shilin S; Jin, Wenfei W; Lou, Haiyi H; Yang, Ling L; Gong, Xiaohong X; Wang, Hongyan H; Shen, Yiping Y; Pan, Xuedong X; He, Yungang Y; Yang, Yajun Y; Wang, Yi Y; Fu, Wenqing W; An, Yu Y; Wang, Jiucun J; Tan, Jingze J; Qian, Ji J; Chen, Xiaoli X; Zhang, Xin X; Sun, Yangfei Y; Zhang, Xuejun X; Wu, Bailin B; Jin, Li L

Publication Date: 2009-12

Variant appearance in text: rs2517646

PubMed Link: 19944404

Variant Present in the following documents:

• Main text

View BVdb publication page

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